Fraser syndrome 1 [Source:HGNC Symbol;Acc:19185]
DKFZp686I05113, FLJ14927, FLJ22031, KIAA1500
Chromosome 4: 78,978,724-79,465,423 forward strand.
GRCh37:CM000666.1
This gene has 9 transcripts (splice variants), 4 paralogues and is associated with 5 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000264895.6 | FRAS1-201 | 12479 | 4012aa | ENSP00000264895.6 | Protein coding | CCDS54771 | Q4W596 Q69YV4 Q86XX4 | NM_025074.6 | Ensembl Canonical, GENCODE basic, |
ENST00000512123.1 | FRAS1-008 | 9869 | 2241aa | ENSP00000422834.1 | Protein coding | Q69YV4 | - | CDS 5' incomplete, | |
ENST00000325942.6 | FRAS1-001 | 7142 | 1976aa | ENSP00000326330.6 | Protein coding | CCDS54772 | Q4W596 Q86XX4 | NM_001166133.1 | GENCODE basic, |
ENST00000264899.6 | FRAS1-202 | 2654 | 737aa | ENSP00000264899.6 | Protein coding | Q4W596 Q86XX4 | - | GENCODE basic, | |
ENST00000502446.1 | FRAS1-004 | 2217 | 666aa | ENSP00000423645.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000508900.1 | FRAS1-005 | 2169 | 652aa | ENSP00000423809.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000510944.1 | FRAS1-007 | 2125 | 426aa | ENSP00000422221.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000508909.1 | FRAS1-003 | 2297 | 39aa | ENSP00000425583.1 | Nonsense mediated decay | D6RCP6 | - | - | |
ENST00000509802.1 | FRAS1-010 | 564 | No protein | - | Retained intron | - | - | - |